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Article

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.

PloS one - 1 Jan 2013

Girotto Giorgia, Abdulhadi Khalid, Buniello Annalisa, Vozzi Diego, Licastro Danilo, d'Eustacchio Angela, Vuckovic Dragana, Alkowari Moza Khalifa, Steel Karen P, Badii Ramin, Gasparini Paolo

Abstract excerpt

Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the A1555G mitochondrial mutation play a major role worldwide in causing deafness, but there is a high degree of genetic heterogeneity and many gen...

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Source

Open in PubMed Open full text

Identifiers

PMID: 24312468
DOI: 10.1371/journal.pone.0080323
PMCID: PMC3846559

Genes

BDP1
GJB2
GJB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24312468-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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